File:Rett_Girl_Mouthing.jpg · Wikimedia Commons · See Wikimedia Commons
Rett syndrome
Sign in to saveAlso known as Rett's disorder, cerebroatrophic hyperammonemia, atypical Rett syndrome, Rett's syndrome
genetic brain disorder
Key facts
- Other names
- Cerebroatrophic Hyperammonemia ( obsolete ), dementia, ataxia, and loss of purposeful hand use syndrome
- Specialty
- Psychiatry , clinical psychology , pediatrics , neurology
- Symptoms
- Impairments in language and coordination, and repetitive movements, slower growth, smaller head
- Complications
- Seizures , scoliosis , sleeping problems
- Usual onset
- After 6–18 months of age
- Duration
- Lifelong
- Causes
- Mutation in the MECP2 gene
- Diagnostic method
- Based on symptoms, genetic testing
- Differential diagnosis
- Angelman syndrome , autism , cerebral palsy , childhood disintegrative disorder , various neurodegenerative disorders
- Treatment
- Special education , physiotherapy , braces
- Medication
- Anticonvulsants
- Prognosis
- Life expectancy for many is middle age.
- Frequency
- 1 in 8,500 females , Lethal in males, with rare exceptions.
via Wikipedia infobox
Research
5,091 papers- Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.Genes · 2023
- Rett syndrome: a neurological disorder with metabolic components.Open biology · 2018
- [Rett syndrome: from pathophysiology to developments in treatment].Medicina · 2024
- Rett Syndrome: Thinking Beyond Brain Borders.Advances in experimental medicine and biology · 2025
- Rett syndrome.Current opinion in neurology · 1995
via PubMed
Wikidata facts
- Subclass of
- disease
- Named after
- Andreas Rett
- Image
- RettScoliosis.png
Show 11 more facts
- Commons category
- Rett syndrome
- health specialty
- psychiatry
- discoverer or inventor
- Andreas Rett
- NCI Thesaurus ID
- C75488
- exact match
- identifiers.org/doid/DOID:1206
- genetic association
- FOXG1
- medical examination
- sequencing
- hashtag
- RettSyndrome
- external data available at URL
- www.nanbyou.or.jp/entry/4366
- on focus list of Wikimedia project
- WikiProject Medicine
- time of discovery or invention
- 1966-00-00
via Wikidata · CC0
~23 min read
Encyclopedic overview
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in girls. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often have slower growth, difficulty walking, and a smaller head size. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. The severity of the condition is variable.
Rett syndrome is due to a genetic mutation, usually in the MECP2 gene, on the X chromosome. It almost always occurs as a new mutation, with less than one percent of cases being inherited. It occurs almost exclusively in girls; boys who have a similar mutation typically die shortly after birth. Diagnosis is based on the symptoms and can be confirmed with genetic testing.
Excerpted from Wikipedia’s “Rett syndrome” article, available under the CC BY-SA 4.0 licence.